Natalia T Leach
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Explore the profile of Natalia T Leach including associated specialties, affiliations and a list of published articles.
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17
Citations
396
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Recent Articles
1.
Fleming J, Sullivan R, Alfego D, Leach N, Richman T, Rafalko J
Am J Prev Cardiol
. 2025 Feb;
21:100930.
PMID: 39896055
Introduction: Familial Hypercholesterolemia (FH) is a primarily autosomal dominant condition characterized by markedly elevated low-density lipoprotein-cholesterol (LDL-c) and an increased risk of atherosclerosis and cardiovascular disease (CVD). Though early identification...
2.
Rosenblum L, Auger S, Zhu H, Zhou Z, Xin W, Reiner J, et al.
J Mol Diagn
. 2024 Jan;
26(3):202-212.
PMID: 38171482
Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for...
3.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach N, Shen Y, Moldovan O, et al.
Sci Rep
. 2023 Aug;
13(1):12984.
PMID: 37563198
In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7...
4.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach N, Shen Y, Moldovan O, et al.
Res Sq
. 2023 Apr;
PMID: 37034680
In an apparently balanced translocation t(7;12)(q22;q24)dn exhibiting both Kallmann syndrome (KS) and intellectual disability (ID), we detected a cryptic heterozygous 4.7 Mb del(12)(p11.21p11.23) unrelated to the translocation breakpoint. This new...
5.
Gregg A, Aarabi M, Klugman S, Leach N, Bashford M, Goldwaser T, et al.
Genet Med
. 2021 Aug;
23(10):2015.
PMID: 34453133
No abstract available.
6.
Gregg A, Aarabi M, Klugman S, Leach N, Bashford M, Goldwaser T, et al.
Genet Med
. 2021 Jul;
23(10):1793-1806.
PMID: 34285390
Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease...
7.
Zeng Q, Leach N, Zhou Z, Zhu H, Smith J, Rosenblum L, et al.
Sci Rep
. 2020 Sep;
10(1):15060.
PMID: 32929119
Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants,...
8.
Monaghan K, Leach N, Pekarek D, Prasad P, Rose N
Genet Med
. 2020 Jan;
22(4):675-680.
PMID: 31911674
No abstract available.
9.
Rosenblum L, Zhu H, Zhou Z, Teicher J, Heim R, Leach N
J Genet Couns
. 2019 Oct;
29(1):56-66.
PMID: 31663226
The intent of carrier screening is to identify individuals at risk for having a child with a genetic disorder. American College of Medical Genetics and Genomics (ACMG) guidelines currently recommend...
10.
Kim H, Kim H, Leach N, Lan F, Ullmann R, Silahtaroglu A, et al.
Am J Hum Genet
. 2012 Jul;
91(1):56-72.
PMID: 22770980
Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID),...